Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity
0.370 Biomarker disease BEFREE Elucidating the function of the mutated gene, ALMS1, is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms of obesity and type 2 diabetes. 30421101 2019
CUI: C0028754
Disease: Obesity
Obesity
0.370 CausalMutation disease CLINVAR A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 29079548 2018
CUI: C0028754
Disease: Obesity
Obesity
0.370 GeneticVariation disease BEFREE This study therefore investigated OCA effects in Wt mice, which develop obesity with atherogenic dietary feeding, and appetite-dysregulated, Alms1 mutant foz/foz mice fed the same diet, which develop metabolic obesity and diabetes. 27804232 2017
CUI: C0028754
Disease: Obesity
Obesity
0.370 AlteredExpression disease BEFREE Despite equivalent levels of obesity, patients with Alström syndrome are more likely than those with Bardet-Biedl syndrome to develop childhood type 2 diabetes mellitus (T2DM), suggesting that ALMS1 might have a specific role in β-cell function and/or peripheral insulin signaling pathways. 21135875 2011
CUI: C0028754
Disease: Obesity
Obesity
0.370 Biomarker disease BEFREE ALMS1 is a multisystem condition characterized by childhood onset of blindness, dilated cardiomyopathy, sensorineural hearing loss, renal failure, fibrotic lung disease, and metabolic abnormalities, including hypertriglyceridemia, liver steatosis, insulin resistance, type 2 diabetes mellitus, and obesity. 19440062 2009
CUI: C0028754
Disease: Obesity
Obesity
0.370 Biomarker disease BEFREE Alms1-/- mice develop features similar to patients with AS, including obesity, hypogonadism, hyperinsulinemia, retinal dysfunction and late-onset hearing loss. 16000322 2005
CUI: C0028754
Disease: Obesity
Obesity
0.370 Biomarker disease BEFREE Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. 15855349 2005
CUI: C0028754
Disease: Obesity
Obesity
0.370 Biomarker disease MGD Alms1-/- mice develop features similar to patients with AS, including obesity, hypogonadism, hyperinsulinemia, retinal dysfunction and late-onset hearing loss. 16000322 2005
CUI: C0028754
Disease: Obesity
Obesity
0.370 GeneticVariation disease BEFREE Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. 11941369 2002